000			01915 a2200589 4500
005			20250518063221.0
264		0	_c20210204
008			202102s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmedgenet-2019-106409 _2doi
040			_aNLM _beng _cNLM
100	1		_aGhosh, Shereen Georges
245	0	0	_aRecurrent homozygous damaging mutation in _h[electronic resource]
260			_bJournal of medical genetics _c04 2020
300			_a274-282 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence _xgenetics
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aConsanguinity
650	0	4	_aEndoplasmic Reticulum _xgenetics
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMembrane Proteins _xgenetics
650	0	4	_aMicrocephaly _xgenetics
650	0	4	_aMutation _xgenetics
650	0	4	_aProtein Disulfide-Isomerases _xgenetics
650	0	4	_aProtein Folding
650	0	4	_aThioredoxins _xgenetics
650	0	4	_aExome Sequencing
700	1		_aWang, Lu
700	1		_aBreuss, Martin W
700	1		_aGreen, Joshua D
700	1		_aStanley, Valentina
700	1		_aYang, Xiaoxu
700	1		_aRoss, Danica
700	1		_aTraynor, Bryan J
700	1		_aAlhashem, Amal M
700	1		_aAzam, Matloob
700	1		_aSelim, Laila
700	1		_aBastaki, Laila
700	1		_aElbastawisy, Hanan I
700	1		_aTemtamy, Samia
700	1		_aZaki, Maha
700	1		_aGleeson, Joseph G
773	0		_tJournal of medical genetics _gvol. 57 _gno. 4 _gp. 274-282
856	4	0	_uhttps://doi.org/10.1136/jmedgenet-2019-106409 _zAvailable from publisher's website
999			_c30176617 _d30176617